NUCB2

Gene Information
 
Gene Symbol
NUCB2
 
Aliases
HEL-S-109, NEFA
 
Entrez Gene ID
 
Gene Name
Nucleobindin 2
 
Chromosomal Location
11p15.1
 
HGNC ID
 
Summary
This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs757081
26369257

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0005615 Cellular component Extracellular space HDA 16502470
GO:0005793 Cellular component Endoplasmic reticulum-Golgi intermediate compartment IBA 21873635
GO:0005793 Cellular component Endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005829 Cellular component Cytosol TAS 7811391
GO:0005886 Cellular component Plasma membrane TAS 7811391
Protein Information
 
Protein Name
Nucleobindin-2, DNA-binding protein NEFA, epididymis secretory protein Li 109, gastric cancer antigen Zg4, nesfatin 1, novel DNA binding/EF-hand/leucine zipper protein, nucleobinding 2, prepronesfatin
 
Function
Calcium-binding protein which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G-protein) alpha subunit GNAI3 (By similarity). .; [Nesfatin-1]: Anorexigenic peptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis, acting in a leptin-independent manner. May also exert hypertensive roles and modulate blood pressure through directly acting on peripheral arterial resistance.
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF13499 EF-hand_7
Interactions
 
STRING MINT IntAct
ENSP00000435412 Q15418 Q15418
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, chronic oligo-ovulation or anovulation, clinical or biochemical hyperandrogenism, polycystic ovaries, insulin resistance (IR), central obesity, type 2 diabetes mellitus (DM), dyslipidemia, and cardiovascular diseases 
 
European Society for Human Reproduction and Embryology and the American Society for Reproductive Medicine (ESHRE/ASRM) criteria 
Related 
60 PCOS women and 26 control  
C allele of NUCB2 gene polymorphism related with lower nesfatin-1 levels may play important role in pathogenesis of PCOS. 

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